ETV6 Gene Thrombocytopenia type 5 NGS Genetic Test
Short Name: ETV6 Thrombocytopenia Type 5 NGS Test
Also known as: ETV6 Gene Mutation Test, Thrombocytopenia 5 Genetic Test, ETV6-Related Thrombocytopenia NGS Test, ETS Variant Transcription Factor 6 Gene Test, Hereditary Thrombocytopenia Type 5 Genetic Test
ETV6 Gene Thrombocytopenia type 5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation of Detected Variants, Bioinformatics Pipeline Analysis on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt at the laboratory. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The primary purpose of the ETV6 Gene Thrombocytopenia Type 5 NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the ETV6 gene that cause hereditary thrombocytopenia. This test aids in confirming a clinical diagnosis, differentiating inherited thrombocytopenia from acquired causes such as immune thrombocytopenic purpura (ITP), guiding treatment decisions, enabling genetic counseling for affected families, and facilitating cascade screening of at-risk relatives.
- Test Code
- 2689
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks from sample receipt at the laboratory
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation of Detected Variants, Bioinformatics Pipeline Analysis
Sample Collection
No special preparation such as fasting is required. A pre-test genetic counseling session is recommended to draw a pedigree chart of family members affected with thrombocytopenia and to discuss the implications of testing. Provide complete clinical history of the patient including any prior platelet counts, bleeding history, family history, and current medications.
Method: Venipuncture or Finger Prick (FTA Card)
Laboratory Analysis
A blood sample of approximately 3-5 mL will be collected via venipuncture into an EDTA (lavender-top) vacutainer. Alternatively, one drop of blood can be spotted onto an FTA card. The collection procedure is similar to a routine blood draw and typically takes less than 5 minutes.
Report Delivery
Apply pressure to the puncture site with a cotton ball or gauze for 3-5 minutes to prevent bruising. The sample will be transported under ambient room temperature conditions to the laboratory. Results are typically available within 3 to 4 weeks. A genetic counseling session will be provided to help interpret the results.
Timeline: 3 to 4 Weeks from sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the ETV6 Gene Thrombocytopenia Type 5 NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the ETV6 gene that cause hereditary thrombocytopenia. This test aids in confirming a clinical diagnosis, differentiating inherited thrombocytopenia from acquired causes such as immune thrombocytopenic purpura (ITP), guiding treatment decisions, enabling genetic counseling for affected families, and facilitating cascade screening of at-risk relatives.
How to Prepare
- No fasting required prior to sample collection
- Collect 3-5 mL of venous blood in an EDTA (lavender-top) vacutainer
- Alternatively, spot one drop of blood onto an FTA collection card
- Label the sample clearly with patient name, date of birth, and date of collection
- Transport the sample at ambient room temperature (15-30°C)
- Avoid hemolysis by gently inverting the EDTA tube 8-10 times after collection
- Provide completed test requisition form with clinical history and family pedigree
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"ETV6-related thrombocytopenia is an underdiagnosed cause of inherited low platelet counts. Early molecular diagnosis through NGS allows clinicians to distinguish it from immune thrombocytopenia and other acquired causes, preventing unnecessary treatments such as corticosteroids or splenectomy. Identifying the causative ETV6 variant also enables cascade screening of at-risk family members and appropriate long-term surveillance for associated hematological malignancies, particularly acute lymphoblastic leukemia."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or insufficient sample volume
- Sample collected in incorrect tube type (non-EDTA)
- Unlabeled or mislabeled samples
- Sample contaminated or improperly stored
- Requisition form missing patient details or clinical history
Understanding Your Results
Pathogenic Variant Detected
A known disease-causing mutation in the ETV6 gene has been identified. This confirms the molecular diagnosis of Thrombocytopenia Type 5. Genetic counseling and family screening are recommended.
Likely Pathogenic Variant Detected
A variant with strong evidence of disease association has been found. Clinical correlation and family segregation studies may be recommended for definitive classification.
Variant of Uncertain Significance (VUS)
A genetic change was identified but there is currently insufficient evidence to classify it as pathogenic or benign. Periodic re-evaluation is recommended as new research data becomes available.
Likely Benign Variant Detected
A variant was identified that is unlikely to be associated with disease. Clinical correlation is advised.
No Pathogenic Variant Detected
No disease-causing mutations were identified in the ETV6 gene. This result does not completely exclude a genetic cause for thrombocytopenia, as mutations in other genes may be responsible.
Consult a hematologist or clinical geneticist if you or a family member has a persistently low platelet count, unexplained bleeding episodes, easy bruising, or a family history of thrombocytopenia or hematological malignancies. Early diagnosis through genetic testing can guide appropriate management and surveillance.
Limitations
- ⚠This test does not detect large genomic rearrangements, copy number variations, or deep intronic variants outside the targeted regions
- ⚠Variants of Uncertain Significance (VUS) may be identified and may require periodic reclassification as new evidence becomes available
- ⚠A negative result does not completely exclude a genetic basis for thrombocytopenia as other genes may be involved
- ⚠Mosaicism at low levels may not be detected by standard NGS methodology
- ⚠This test is not a substitute for comprehensive clinical evaluation and hematological workup
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Very small risk of infection at the puncture site
- ●Possible identification of Variants of Uncertain Significance (VUS) which may cause anxiety
- ●Potential discovery of incidental findings related to cancer predisposition
Interfering Factors
- ●Recent blood transfusion within the past 4 weeks may affect DNA quality
- ●Degraded or insufficient DNA sample may impact sequencing accuracy
- ●Contamination of the sample during collection or transport
- ●Hemolyzed blood samples may reduce DNA yield and quality
Compare With Similar Tests
| Test | ETV6 Gene Thrombocytopenia type 5 NGS Genetic Test | Complete Blood Count (CBC) with Platelet Count | Sanger Sequencing of ETV6 Gene | Bone Marrow Biopsy |
|---|---|---|---|---|
| Comparison | ETV6 Gene Thrombocytopenia type 5 NGS Genetic Test |
Frequently Asked Questions
What is the ETV6 Gene Thrombocytopenia Type 5 NGS Genetic Test?
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